Varaico: Literature-Extracted Genetic Variants

Gene:FOXE3
Variant:p.G49A
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FOXE3

NM_012186.3:p.G49A

Associated Papers

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.

Reis LM et al.

Human Molecular Genetics, 2021

Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.

Reis LM et al.

Human Genetics, 2019

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Anand D et al.

Human Mutation, 2018

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

Kuang SQ et al.

The Journal of Clinical Investigation, 2016

Genetics of anterior segment dysgenesis disorders.

Reis LM et al.

Current Opinion in Ophthalmology, 2011

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.

Doucette L et al.

European Journal of Human Genetics : Ejhg, 2011

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.

Ali M et al.

Molecular Vision, 2010

FOXE3 plays a significant role in autosomal recessive microphthalmia.

Reis LM et al.

American Journal of Medical Genetics. Part A, 2010

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Iseri SU et al.

Human Mutation, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."